| Term Name: | progressive familial intrahepatic cholestasis 2 | 
|---|---|
| Synonyms: | BSEP deficiency, PFIC2 | 
| Definition: | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. | 
| Ontology: | Human Disease [DOID:0070222] ( DOID:0070222 ) |